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Article

TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy.

Scientific reports - 3 Aug 2017

Howell Matthew D, Ottesen Eric W, Singh Natalia N, Anderson Rachel L, Seo Joonbae, Sivanesan Senthilkumar, Whitley Elizabeth M, Singh Ravindra N

Abstract excerpt

Spinal muscular atrophy (SMA) is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. The nearly identical SMN2 cannot compensate for SMN1 loss due to exon 7 skipping. The allele C (C +/+) mouse recapitulates a mild SMA-like phenotype and offers an ideal system to monitor the role of disease-modifying factors over a long time. T-cell-restricted intracellular antigen 1 (TIA1) regulates SMN exon...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28775379
DOI: 10.1038/s41598-017-07468-2
PMCID: PMC5543135

Genes

TIA1
SMN1
SMN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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